| Metadata | |
|---|---|
| ID | DOID:0111569 |
| Name | autosomal dominant vitreoretinochoroidopathy |
| Definition | A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. https://www.ncbi.nlm.nih.gov/pubmed/15452077, https://www.ncbi.nlm.nih.gov/pubmed/7065944 |
| Xrefs |
SNOMEDCT_US_2023_03_01:711162004 |
| Subsets |
DO_rare_slim |
| Synonyms |
ADVIRC [EXACT] vitreoretinochoroidopathy dominant [EXACT] vitreoretinochoroidopathy with microcornea, glaucoma, and cataract [EXACT] vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos [EXACT] VRCP autosomal dominant [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |